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Stellate iris

MedGen UID:
868333
•Concept ID:
C4022727
•
Finding
HPO: HP:0012775

Definition

A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVStellate iris

Conditions with this feature

Neuroocular syndrome
MedGen UID:
1790414
•Concept ID:
C5551362
•
Disease or Syndrome
See: Condition Record
Neuroocular syndrome

Professional guidelines

PubMed

Classification Criteria for Fuchs Uveitis Syndrome.
Standardization of Uveitis Nomenclature (SUN) Working Group
Am J Ophthalmol 2021 Aug;228:262-267. Epub 2021 May 11 doi: 10.1016/j.ajo.2021.03.052. PMID: 33845007Free PMC Article

Recent clinical studies

Etiology

Ophthalmic characteristics and retinal vasculature changes in Williams syndrome, and its association with systemic diseases.
Yeh TC, Cheng HC, Li HY, Chi SC, Yang HY, Yu JY, Niu DM, Wang AG
Eye (Lond) 2023 Aug;37(11):2265-2271. Epub 2022 Nov 28 doi: 10.1038/s41433-022-02328-4. PMID: 36437422Free PMC Article
Ocular Features in 16 Brazilian Patients with Williams-Beuren Syndrome.
Viana MM, Frasson M, Galvão H, Leão LL, Stofanko M, Gonçalves-Dornelas H, da Silva Cunha P, Burle de Aguiar MJ
Ophthalmic Genet 2015;36(3):234-8. doi: 10.3109/13816810.2013.873941. PMID: 24417560
Williams-Beuren syndrome in the Hong Kong Chinese population: retrospective study.
Yau EK, Lo IF, Lam ST
Hong Kong Med J 2004 Feb;10(1):22-7. PMID: 14967851

Diagnosis

Ophthalmic characteristics and retinal vasculature changes in Williams syndrome, and its association with systemic diseases.
Yeh TC, Cheng HC, Li HY, Chi SC, Yang HY, Yu JY, Niu DM, Wang AG
Eye (Lond) 2023 Aug;37(11):2265-2271. Epub 2022 Nov 28 doi: 10.1038/s41433-022-02328-4. PMID: 36437422Free PMC Article
Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome.
Huryn LA, Flaherty T, Nolen R, Prasov L, Zein WM, Cukras CA, Osgood S, Raja N, Levin MD, Vitale S, Brooks BP, Hufnagel RB, Kozel BA
Br J Ophthalmol 2023 Oct;107(10):1554-1559. Epub 2022 Jun 27 doi: 10.1136/bjophthalmol-2022-321103. PMID: 35760456Free PMC Article
Ocular Features in 16 Brazilian Patients with Williams-Beuren Syndrome.
Viana MM, Frasson M, Galvão H, Leão LL, Stofanko M, Gonçalves-Dornelas H, da Silva Cunha P, Burle de Aguiar MJ
Ophthalmic Genet 2015;36(3):234-8. doi: 10.3109/13816810.2013.873941. PMID: 24417560
Williams-Beuren syndrome in the Hong Kong Chinese population: retrospective study.
Yau EK, Lo IF, Lam ST
Hong Kong Med J 2004 Feb;10(1):22-7. PMID: 14967851
Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus.
Kotzot D, Bernasconi F, Brecevic L, Robinson WP, Kiss P, Kosztolanyi G, Lurie IW, Superti-Furga A, Schinzel A
Eur J Pediatr 1995 Jun;154(6):477-82. doi: 10.1007/BF02029360. PMID: 7545578

Prognosis

Williams-Beuren syndrome in the Hong Kong Chinese population: retrospective study.
Yau EK, Lo IF, Lam ST
Hong Kong Med J 2004 Feb;10(1):22-7. PMID: 14967851
The Williams syndrome: an Italian collaborative study.
Franceschini P, Guala A, Vardeu MP, Signorile F, Franceschini D, Mastroiacovo P, Gianotti A, Livini E, Lalatta F, Selicorni A, Andria G, Scarano G, Della Monica M, Rizzo R, Zelante L, Stabile M, Gabrielli O, Neri G
Minerva Pediatr 1996 Oct;48(10):421-8. PMID: 9017917

Clinical prediction guides

Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome.
Huryn LA, Flaherty T, Nolen R, Prasov L, Zein WM, Cukras CA, Osgood S, Raja N, Levin MD, Vitale S, Brooks BP, Hufnagel RB, Kozel BA
Br J Ophthalmol 2023 Oct;107(10):1554-1559. Epub 2022 Jun 27 doi: 10.1136/bjophthalmol-2022-321103. PMID: 35760456Free PMC Article
Microduplication of Xp11.23p11.3 with effects on cognition, behavior, and craniofacial development.
El-Hattab AW, Bournat J, Eng PA, Wu JB, Walker BA, Stankiewicz P, Cheung SW, Brown CW
Clin Genet 2011 Jun;79(6):531-8. doi: 10.1111/j.1399-0004.2010.01496.x. PMID: 20662849

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